Overview

About Fanconi anemia

Fanconi anemia is a rare inherited blood disorder that leads to bone marrow failure. It prevents bone marrow from making enough new blood cells for the body to work properly. Fanconi anemia can also cause bone marrow to make faulty blood cells. This can lead to serious health problems such as leukemia, a type of blood cancer. Although Fanconi anemia is a blood disorder, it can also affect many of the body’s other organs, tissues and systems.

Symptoms and diagnosis

Recognizing Fanconi anemia

Fanconi anemia usually appears before age 12.

Early signs and symptoms may include:

  • Easily tired

  • Shortness of breath

  • Pale skin

  • Feeling dizzy

  • Headaches

  • Chest pain

  • Frequent infections

  • Easy bruising

  • Nosebleeds

Many children with Fanconi anemia are born with at least one of the following:

  • Smaller-than average body size

  • Below-average weight

  • Delayed growth

  • Small head size

  • Extra or missing thumbs or fingers

  • Hips, legs, hands and toes not formed fully 

  • Ear and eye defects

Your child’s doctor will ask questions about their medical history and do a physical examination. The following tests will also be completed:

  • Chromosome breakage test: This treats white blood cells or sometimes skin cells with certain chemicals to see how the chromosomes in these cells react.

  • Mutation screening: Mutation screening looks for abnormalities in specific genes that are responsible for Fanconi anemia

Treatments

Advanced treatment options for your child’s needs

Treating Fanconi anemia can include both short-term and long-term treatment. Short-term will monitor the disease and control the symptoms.

These treatment options include:

  • Regular blood-count checks

  • Yearly bone marrow test

  • Screenings for tumors and cancer

  • Antibiotic treatment as needed for infections

  • Blood transfusion

Long-term treatment includes:

  • Bone marrow transplant

  • Growth factors to help the body make more red and white blood cells.

  • Androgen therapy to help the body make more red blood cells and platelets.

Fighting pediatric cancer and blood disorders

At UW Health, we offer the most advanced treatment options. Our pediatric cancer and blood disorder experts are national research leaders. We test new therapies and continue to work on therapies for pediatric cancer and blood disorders. For many children with rare or hard-to-treat conditions, clinical trials provide new options.

Search our clinical trials

Locations

Care for your child

Receiving care from the pediatric hematology, oncology and bone marrow transplant program at American Family Children’s Hospital means you have access to the knowledge and skills of many medical and support specialists for your child’s complex health diagnosis like cancer.

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  • American Family Children's Hospital - Pediatric Hematology and Oncology
    • 1675 Highland Ave. / Madison, WI
    • (608) 263-6420
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  • American Family Children's Hospital - Pediatric Bone Marrow Transplant
    • 1675 Highland Ave. / Madison, WI
    • (608) 263-6420
    • Closed now
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      View hours, services and more

Meet our team

Expert care for your child

Your child’s care is our top priority and we understand the unique needs they have.

Your child’s team will include:

  • Oncologists (cancer doctors)

  • Hematologists (blood disease doctors)

  • Nurse practitioners

  • Child Life specialists

  • Pain management specialists

  • Physical, occupational and speech therapists

  • Radiologists and radiation technologists

  • Social workers

Our providers

We care for your child as if they are our own

With our expertise comes compassion. Our team considers you and your child part of our family. We will be by your side every step of the way. From diagnosis through treatment and into adulthood, we will care for your child as if they are our own.

Learn more

Patient and support services

You’re never alone

There are services available at both American Family Children’s Hospital and in the community to help patients and their families through every step of their journey.

Child Life specialists help your child and family cope with any fears and anxieties, and the American Family Children's Hospital patient and family visitor guide features information about:

  • Health psychology

  • Hero beads

  • Hospital school

  • Positive Image Center

  • Spiritual care services

  • Tyler's Place (sibling child care)

Additional resources